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Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions

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Pages 446-456 | Received 28 Nov 2017, Accepted 09 Jan 2018, Published online: 31 Jan 2018

References

  • Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942–55.
  • Swinnen B, Robberecht W. The phenotypic variability of amyotrophic lateral sclerosis. Nat Rev Neurol. 2014;10:661–70.
  • Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314:130–3.
  • Munoz DG, Greene C, Perl DP, Selkoe DJ. Accumulation of phosphorylated neurofilaments in anterior horn motoneurons of amyotrophic lateral sclerosis patients. J Neuropathol Exp Neurol. 1988;47:9–18.
  • Sasaki S, Iwata M. Mitochondrial alterations in the spinal cord of patients with sporadic amyotrophic lateral sclerosis. J Neuropathol Exp Neurol. 2007;66:10–6.
  • Wang W, Wang L, Lu J, Siedlak SL, Fujioka H, Liang J, et al. The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity. Nat Med. 2016;22:869–78.
  • Ferrante RJ, Browne SE, Shinobu LA, Bowling AC, Baik MJ, MacGarvey U, et al. Evidence of increased oxidative damage in both sporadic and familial amyotrophic lateral sclerosis. J Neurochem. 1997;69:2064–74.
  • Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2012;3:CD001447.
  • Mitsumoto H, Brooks BR, Silani V. Clinical trials in amyotrophic lateral sclerosis: why so many negative trials and how can trials be improved? Lancet Neurol. 2014;13:1127–38.
  • Oketa Y, Higashida K, Fukasawa H, Tsukie T, Ono S. Abundant FUS-immunoreactive pathology in the skin of sporadic amyotrophic lateral sclerosis. Acta Neurol Scand. 2013;128:257–64.
  • Suzuki M, Mikami H, Watanabe T, Yamano T, Yamazaki T, Nomura M, et al. Increased expression of TDP-43 in the skin of amyotrophic lateral sclerosis. Acta Neurol Scand. 2010;122:367–72.
  • Watanabe T, Okeda Y, Yamano T, Ono S. An immunohistochemical study of ubiquitin in the skin of sporadic amyotrophic lateral sclerosis. J Neurol Sci. 2010;298:52–6.
  • Onesto E, Colombrita C, Gumina V, Borghi MO, Dusi S, Doretti A, et al. Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts. Acta Neuropathol Commun. 2016;4:47.
  • Orrù S, Coni P, Floris A, Littera R, Carcassi C, Sogos V, et al. Reduced stress granule formation and cell death in fibroblasts with the A382T mutation of TARDBP gene: evidence for loss of TDP-43 nuclear function. Hum Mol Genet. 2016;25:4473–83.
  • Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
  • Sabatelli M, Zollino M, Conte A, Del Grande A, Marangi G, Lucchini M, et al. Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations. Neurobiol Aging. 2015;36:2005.e5–e13.
  • Schwartz JC, Podell ER, Han SSW, Berry JD, Eggan KC, Cech TR. FUS is sequestered in nuclear aggregates in ALS patient fibroblasts. Mol Biol Cell. 2014;25:2571–8.
  • Yu Y, Chi B, Xia W, Gangopadhyay J, Yamazaki T, Winkelbauer-Hurt ME, et al. U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish. Nucleic Acids Res. 2015;43:3208–18.
  • Allen SP, Rajan S, Duffy L, Mortiboys H, Higginbottom A, Grierson AJ, et al. Superoxide dismutase 1 mutation in a cellular model of amyotrophic lateral sclerosis shifts energy generation from oxidative phosphorylation to glycolysis. Neurobiol Aging. 2014;35:1499–509.
  • Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, et al. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain. 2014;137:2329–45.
  • Deng H-X, Chen W, Hong S-T, Boycott KM, Gorrie GH, Siddique N, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature. 2011;477:211–5.
  • Bartolome F, Wu H-C, Burchell VS, Preza E, Wray S, Mahoney CJ, et al. Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron. 2013;78:57–64.
  • Allen SP, Duffy LM, Shaw PJ, Grierson AJ. Altered age-related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging. 2015;36:2893–903.
  • Kirk K, Gennings C, Hupf JC, Tadesse S, D’Aurelio M, Kawamata H, et al. Bioenergetic markers in skin fibroblasts of sporadic amyotrophic lateral sclerosis and progressive lateral sclerosis patients. Ann Neurol. 2014;76:620–4.
  • Narayan M, Seeley KW, Jinwal UK. Identification of Apo B48 and other novel biomarkers in amyotrophic lateral sclerosis patient fibroblasts. Biomark Med. 2016;10:453–62.
  • Raman R, Allen SP, Goodall EF, Kramer S, Ponger L-L, Heath PR, et al. Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions. Neuropathol Appl Neurobiol. 2015;41:201–26.
  • Konrad C, Kawamata H, Bredvik KG, Arreguin AJ, Cajamarca SA, Hupf JC, et al. Fibroblast bioenergetics to classify amyotrophic lateral sclerosis patients. Mol Neurodegener. 2017;12:76.
  • Brooks BR, Miller RG, Swash M, Munsat TL, World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
  • Mackenzie IRA, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol. 2007;61:427–34.
  • Paré B, Touzel-Deschênes L, Lamontagne R, Lamarre M-S, Scott F-D, Khuong HT, et al. Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients. Acta Neuropathol Commun. 2015;3:5.
  • Burkhardt MF, Martinez FJ, Wright S, Ramos C, Volfson D, Mason M, et al. A cellular model for sporadic ALS using patient-derived induced pluripotent stem cells. Mol Cell Neurosci. 2013;56:355–64.
  • Codron P, Cassereau J, Eyer J, Letournel F. Neuronal intermediate filaments in amyotrophic lateral sclerosis. In: Foyaca-Sibat H, ed. Update on amyotrophic lateral sclerosis. InTech; 2016.
  • Lowery J, Jain N, Kuczmarski ER, Mahammad S, Goldman A, Gelfand VI, et al. Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. Mol Biol Cell. 2016;27:608–16.
  • Wiedemann FR, Manfredi G, Mawrin C, Beal MF, Schon EA. Mitochondrial DNA and respiratory chain function in spinal cords of ALS patients. J Neurochem. 2002;80:616–25.
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
  • Beal MF, Ferrante RJ, Browne SE, Matthews RT, Kowall NW, Brown RH. Increased 3-nitrotyrosine in both sporadic and familial amyotrophic lateral sclerosis. Ann Neurol. 1997;42:644–54.
  • Jansen GA, Wanders RJ, Jöbsis GJ, Bolhuis PA, de Jong JM. Evidence against increased oxidative stress in fibroblasts from patients with non-superoxide-dismutase-1 mutant familial amyotrophic lateral sclerosis. J Neurol Sci. 1996;139(Suppl):91–4.
  • Sala G, Trombin F, Mattavelli L, Beretta S, Tremolizzo L, Andreoni S, et al. Lack of evidence for oxidative stress in sporadic amyotrophic lateral sclerosis fibroblasts. Neurodegener Dis. 2009;6:9–15.

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